Literature DB >> 24940369

Small supernumerary marker chromosomes - an update.

Thomas Liehr1.   

Abstract

Entities:  

Year:  2014        PMID: 24940369      PMCID: PMC4043994          DOI: 10.1186/1755-8166-7-S1-I11

Source DB:  PubMed          Journal:  Mol Cytogenet        ISSN: 1755-8166            Impact factor:   2.009


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Genotype-phenotype correlations in patients with small supernumerary marker chromosomes (sSMC) are still difficult to asses. The presently known influence of chromosomal imbalance induced by sSMC size and origin, mosaicism of sSMC in different cells of the body and uniparental disomy (UPD) of sSMC’s sister chromosomes on the clinical outcome is summarized according to data on ~5,000 sSMC cases summarized on http://www.fish.uniklinikum-jena.de/sSMC.html. Two third of sSMC carriers are clinically normal. In the remainder 1/3 of sSMC patients, clinical symptoms may vary between slightly up to severely affected, including intrauterine death. Besides the known sSMC related syndromes Pallister-Killian-, isochromosome-15q12-, isochromosome-18p-, cat-eye- and Emanuel-syndrome there are numerous other yet unnamed and unidentified “sSMC-syndromes”. Recently, derivative-8- and derivative-13/21 syndromes in complex sSMC were reported. The influence of chromosomal imbalance induced by sSMC size and its origin seems to have the largest impact on the phenotype of sSMC-patients. Besides UPD of sSMC’s sister chromosomes and mosaicism of sSMC may be important for the clinical outcome. The latter is especially important to be predicted in prenatal cases.
  2 in total

1.  A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome.

Authors:  Irén Haltrich; Henriett Pikó; Eszter Kiss; Zsuzsa Tóth; Veronika Karcagi; György Fekete
Journal:  Mol Cytogenet       Date:  2014-06-05       Impact factor: 2.009

2.  Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder.

Authors:  Dina F Ahram; Danae Stambouli; Aleksandra Syrogianni; Yasser Al-Sarraj; Spyridon Gerou; Hatem El-Shanti; Marios Kambouris
Journal:  Clin Case Rep       Date:  2016-10-21
  2 in total

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